Myology research highlights
RSS feedZolgensma® has obtained conditional marketing authorisation in Europe and cohort ATU in France
The gene therapy product, Zolgensma® (onasemnogene abeparvovec), administered intravenously with a single injection, has just obtained conditional marketing authorisation from the European Commission for SMN1-related proximal spinal muscular atrophy (SMA). This conditional marketing authorisation relates to babies and young children weighing less than 21 kg presenting: a biallelic mutation on the SMN1 gene and a … [Read more]
A meta-analysis estimates prevalence of DMD worldwide
A review of the medical-scientific literature published until October 1, 2019 on the epidemiology of Duchenne muscular dystrophy (DMD) was carried out by an Italian team. Based on around 40 studies, it has not only made it possible to estimate the prevalence of the disease for the first time worldwide, but also to assess the … [Read more]
Ganglionopathies associated with MERRF syndrome
MERRF syndrome, which combines myoclonic epilepsy and myopathy with red and shredded muscle fibers, is part of the wide spectrum of mitochondrial diseases. In this syndrome, neuropathies are common but no ganglionopathy has ever been reported. In an article published in June 2020, a French team including clinicians from the Institute of Myology retrospectively identified … [Read more]
A program to promote clinical trials in SMA in the United States
SMA can start at all ages. It is clinically manifested by paralysis of varying age and severity, causing respiratory and orthopedic complications. Depending on the age of onset and the motor levels acquired, there are 4 types (from I to IV). Motor neuron degeneration is linked to a recessive mutation in the SMN1 gene, the … [Read more]
New study argues for a 4-time higher dose of enzyme in infantile-onset Pompe disease
Pompe disease is a rare metabolic disease caused by abnormalities in the GAA gene, which codes for acid alpha-glucosidase, also called acid maltase. The infantile-onset of the disease causes early death in the absence of enzyme replacement therapy with alglucosidase alfa (Myozyme®), administered intravenously at the usual dose of 20 mg / kg / 14 … [Read more]
The first lessons from the neonatal screening program for SMA in New York State
SMA is the second most common neuromuscular disorder in children. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities. The recent arrival of two innovative treatments based on … [Read more]
Myotubular myopathy and peliosis hepatitis: a non incidental association
X-linked myotubular myopathy (MTM) is an extremely rare neuromuscular disease belonging to the very heterogeneous group of congenital myopathies. Revealed at birth, even in utero, it is extremely severe with premature mortality. It results in a major hypotonia with respiratory attack, the whole quickly putting into play the vital prognosis. The causal gene MTM1 codes … [Read more]
Single-breath count test by phone helps to identify myasthenic crises
Myasthenia gravis, a disease of the neuromuscular junction, can be accompanied by respiratory difficulties (dyspnoea, congestion, ineffective cough …) whose occurrence over a few days, associated with a rapid motor deterioration, leads to the diagnosis myasthenic crisis. This exacerbation of the disease constitutes a vital emergency, which requires hospitalization in intensive care. An easy and … [Read more]
Andersen-Tawil Syndrome type 1 (ATS1): publication of the largest series of patients in the world
The concept of canalopathy covers a large number of genetic diseases linked to dysfunctions of ion channels of various kinds. Some of these canalopathies have a muscular and / or cardiac phenotype such as Andersen-Tawil syndrome (ATS1). This rare and little-known neuromuscular disease is transmitted as an autosomal dominant inherited disease. It is linked to … [Read more]
Dermatomyositis associated with anti-MDA5 is divided into three subgroups
Identified in 2009, the anti-MDA5 autoantibodies are considered to be specific for dermatomyositis, a rare autoimmune disease which can cause skin, muscle and / or lung damage (interstitial lung disease). A large observational study conducted between 2011 and 2017 in 37 French hospitals included 83 patients with anti-MDA5 autoantibodies, compared to 190 patients with myositis … [Read more]
